PDLIM5

Chr 4

PDZ and LIM domain 5

Also known as: ENH, ENH1, L9, LIM

NCBI Gene: 10611 ENSG00000163110 UniProt: Q96HC4

This protein functions as a scaffold that tethers protein kinase C to the Z-disk region in cardiac muscle and regulates dendritic spine morphogenesis in neurons, playing roles in both heart development and synaptic growth regulation. Mutations cause autosomal recessive intellectual disability with seizures and cardiac abnormalities including cardiomyopathy. The gene is highly constrained against loss-of-function variants, suggesting complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.55

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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